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Chronic granulomatous disease (CYBB-related)

Chronic granulomatous disease (CGD) affects the immune-system and causes increased susceptibility to bacterial and fungal infections. People with CGD mostly experience serious, recurrent bacterial and fungal infections, which can affect the lungs, liver, bone, and skin. Lung infections often lead to pneumonia. Areas of inflammation (also known as granulomas) can develop and cause tissue damage, most commonly in the gastrointestinal and genitourinary tracts. CGD is typically diagnosed by age 5.

CYBB-related CGD is X-linked and primarily affects males. Female carriers are not usually affected, though some may have symptoms.

Quick facts about chronic granulomatous disease (CYBB-related)
Genes: CYBB
Inheritance: X-linked
Alternative Names: CGD
Relevant resources for chronic granulomatous disease (CYBB-related)

A quick genetics rundown

As humans we have about 23,000 genes. These genes are like tiny instruction manuals that influence our health, growth and development. We inherit half of our genes from our biological mum and the other half from our biological dad. These genes are lined up on structures called chromosomes. Most of us have 23 pairs of chromosomes. The first 22 pairs are called autosomes and for the most part - these are the same among men and women. The 23rd pair determine our sex - two X chromosomes for a female and one X and one Y chromosome for males.

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How is chronic granulomatous disease (CYBB-related) inherited?

chronic granulomatous disease (CYBB-related) is an X-linked condition. X-linked conditions occur when there is a genetic variation on the X-chromosome. For these conditions, the sex of the parent who passes on the gene variation influences the risk for the children.

If the father is affected, all his daughters will have a variation on one of their X-chromosomes and be healthy carriers. Sons can only inherit these x-linked conditions from their mother and therefore, in this situation, will not be affected by the condition.

If the mother is a healthy carrier of an X-linked variation and has a son, there is a 50% chance that they could inherit this variant and be affected by the condition. If they have a daughter, there is a 50% chance that they will be a healthy carrier (just like her mum).

Another way of looking at this is that there is a 25% chance of having an affected son and a 75% chance that the child will not be affected by the condition.

What is carrier screening?

Carrier testing is like a checkup for your genes. It tests to see if you carry a gene variation that could cause a serious genetic condition in your child. Eugene offers an inclusive genetic carrier screening panel that includes chronic granulomatous disease (CYBB-related), but there's a total 301 conditions that can be tested.

Eugene's carrier test is a clinical grade test that can be done from the comfort of your own home — it's just a saliva test. You're also paired with a genetic counsellor who provides mindful support and guidance every step of the way.

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Should parents screen for chronic granulomatous disease (CYBB-related) before or early in pregnancy?

The biggest benefit of screening for chronic granulomatous disease (CYBB-related) is that it can help future parents understand their reproductive risk so they can be ready and empowered to make more informed decisions. If neither partner are carriers, it provides reassurance and peace of mind that the risk of having a child with a genetic condition is low.